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Russ Ferland, Ph.D.

Professor

生物医学科学主席

Location

Stella Maris Hall 331
ag凯发平台 Campus

The combined long-term objectives of our research are to better understand the molecular, genetic, 以及引起神经发育和神经障碍的细胞机制. Overall, my research interests lie primarily in the study of disorders of brain development and neurological disease, 并具体涉及以下调查领域:

1)功能分析 AHI1 and CSPP1, two novel genes which we mapped and cloned in individuals with Joubert syndrome (Ferland et al., Nature Genetics, 2004; Doering et al., J. Comp. Neurol., 2008; Hsiao et al., Hum. Mol. Genet., 2009; Westfall et al., J. Neurosci., 2010; Tuz et al., J. Biol. Chem., 2013; Tuz et al., Am. J. Hum. Genet., 2014; Bourgeois and Ferland, Dev. Biol., 2019; Munoz and Ferland, J. Cell Sci., 2019; Hsiao et al., J. Neurosci., 2021),

2) formation and function of the primary non-motile cilia in development and disease (Hsiao et al., Hum. Mol. Genet., 2009; Westfall et al., J. Neurosci., 2010; Hsiao et al., Cilia, 2012; Tuz et al., J. Biol. Chem., 2013; Tuz et al., Am. J. Hum. Genet., 2014; Hua and Ferland, Cilia, 2017; Hua and Feland, Cell. Mol. Life Sci., 2018; Hua and Ferland, Bioessays, 2018; Bourgeois and Ferland, Dev. Biol., 2019; Munoz and Ferland, J. Cell Sci., 2019; Hsiao et al., J. Neurosci., 2021),

3)癫痫阈值的遗传和神经解剖学机制, seizure propagation,  epileptogenesis, 癫痫性猝死(SUDEP) (Ferland et al., G3 Genes, Genom. Genet, 2017; Ferland, 2017; Loscher, Ferland, and Ferraro, Epilepsy and Behavior, 2017; Kadiyala et al., J. Neurosci., 2016; Kadiyala et al., Epil. Res., 2015; Kadiyala et al., PLoS ONE, 2014; Papandrea et al., Exp. Neurol., 2009; Papandrea et al., Epil. Res., 2009; Ferland et al, 1998a,b,c, 1999, 2002a,b, 2003).
 

Credentials

Education

MS, Neuroscience
罗切斯特大学医学院
1998
PhD, Neuroscience
罗切斯特大学医学院
2000

Post-Doctoral Training

神经遗传学/神经发育博士后培养
Harvard Medical School & 霍华德·休斯医学研究所(波士顿,马萨诸塞州)

Research

Selected publications

肖永春,Muñoz-Estrada J,杜芝,费兰. The transition zone protein AHI1 regulates neuronal ciliary trafficking of MCHR1 and its downstream signaling pathway. J. Neurosci., 41(17):3932-3943, 2021.

Srinivasan A, Srinivasan A, Ferland RJ. AutoSholl允许独立于用户跟踪的Sholl分析的自动化. 中华神经科学杂志,331 (1),2020. Source code & 该算法的编译版本可用 at: http://github.com/ferlandlab/AutoSholl

Muñoz-Estrada J和Ferland RJ. Ahi1促进Arl13b睫状体募集, 调节Arl13b的稳定性,是正常细胞迁移所必需的. 中国生物医学工程学报,2018,29 (3):344 - 344.

布尔乔亚JR和费兰RJ.  神经发育Joubert综合征导致的蛋白质缺失, Ahi1, causes motor and muscle development delays independent of central nervous system involvement. 中国生物医学工程学报,2018,29 (1):344 - 344.

Hua K and Ferland RJ. Primary cilia reconsidered in the context of ciliopathies: Extraciliary and ciliary functions of cilia proteins converge on a polarity theme? 生物学报,40,1700132,1-11,2018.

Hua K and Ferland RJ. 初级纤毛蛋白:纤毛和纤毛外的部位和功能细胞. Mol. Life Sci., 75:1521–1540, 2018.

Kaskow BJ, Buttrick TS, Klein H-U, White C, Bourgeois JR, Ferland RJ, Patsopoulos N, Bradshaw EM, De Jager PL, Elyaman W. 多发性硬化AHI1遗传风险促进IFNγ+ CD4+ T细胞. 神经学:神经免疫学 & 神经炎症,5 (1):1-10 (e414), 2018.

Srinivasan A, Muñoz-Estrada J, Bourgeois JR, Nalwalk J, Pumiglia K, Sheen V, Ferland RJ. BranchAnalysis2D/3D自动化分支结构的形态测量分析. 中华神经科学杂志,2018,34 (4):344 - 344. Source code & 该算法的编译版本可在: http://github.com/ferlandlab/BranchAnalysis2D-3D

Ferland RJ. 小鼠反复氟酰癫痫发作模型. Invited submission.  生物工程学报,7(11):1-12,2017.  DOI:10.21769/BioProtoc.2309.

Löscher W,费兰RJ,费拉罗TN. The relevance of inter- and intrastrain differences in mice and rats and their implications for models of seizures and epilepsy. Epilepsy Behav., 73: 214-235, 2017.

Ferland RJ, Smith J, Papandrea D, Gracias J, Haines L, Kadiyala SB, O'Brien B, Kang EY, Beyer B, Herron BJ. Multidimensional genetic analysis of repeated seizures in the hybrid mouse diversity panel reveals a novel epileptogenesis susceptibility locus. G3 Genes Genom. Genet., 7(8): 2545-2558, 2017.

Hua K and Ferland RJ. 固定方式对纤毛蛋白免疫标记有差异影响. Cilia, 6;5: pp. 1-17, 2017. 

卡迪亚拉SB和费兰RJ. Dissociation of spontaneous seizures and brainstem seizure thresholds in mice exposed to eight flurothyl-induced generalized seizures. 癫痫病杂志,2(1):48-58,2017.

Kadiyala SB, Yannix JQ, Nalwalk JW, Papandrea D, Beyer BS, Herron BJ, Ferland RJ. Eight flurothyl-induced generalized seizures lead to the rapid evolution of spontaneous seizures in mice: a model of epileptogenesis with seizure remission. J. Neurosci., 36(28): 7485-7496, 2016.

Kadiyala SB, Papandrea D, Tuz K, Anderson TM, Jayakumara S, Herron BJ, Ferland RJ. Spatiotemporal differences in the c-fos pathway between C57BL/6J and DBA/2J mice following flurothyl-induced seizures: A dissociation of hippocampal Fos from seizure activity. Epilepsy Res., 109:183-196, 2015.

胡健,陆健,连刚,Ferland RJ, Dettenhofer M, Sheen VL. Formin 1 and Filamin B physically interact to coordinate chondrocyte proliferation and differentiation in the growth plate. Hum. Mol. Genet., 23(17):4663-4673, 2014.

Kadiyala SB, Papandrea D, Herron BJ, Ferland RJ. Segregation of seizure traits in C57 Black mouse substrains using the repeated-flurothyl model. 科学通报9(3):e90506, 2014.

Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, Leventer RJ, Topçu M, Cansu A, Jagadeesh S, Done S, Ishak GE, Glass IA, Shendure J, Neuhauss SC, Haldeman-Englert CR, Doherty D, Ferland RJ. Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. Am. J. Hum. Genet., 94(1): 62–72, 2014.

Tuz K, Hsiao YC, Juarez O, Shi B, Harmon EY, Phelps IG, Lennartz MR, Glass IA, Doherty D, Ferland RJ. The Joubert syndrome associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. J. Biol. Chem., 288(19):13676-94, 2013.

Bhoiwala DL, Koleilat I, Qian J, Beyer B, Hushmendy SF, Mathew A, Bhoiwala DL, Ferland RJ, Crawford DR. Overexpression of RCAN1 isoform 4 in mouse neurons leads to a moderate behavioral impairment. Neurol. Res., 35(1):79-89, 2013.

张娟,Neal J,连刚,石波,Ferland RJ, Sheen VL. Brefeldin A-inhibited guanine exchange factor 2 regulates Filamin A phosphorylation and neuronal migration. J. Neurosci., 32(36):12619-12629, 2012.

连刚,陆娟,胡娟,张娟,Cross SH, Ferland RJ, Sheen VL. Filamin A Regulates Neural Progenitor Proliferation and Brain Size through Wee1-Dependent Cdk1 Phosphorylation. J. Neurosci., 32(22):7672-84, 2012.

肖艳c,图兹K,费兰RJ,贩卖和贩卖初级纤毛. Cilia, 1:4 (1-13), 2012

Westfall (Doering) JE, Hoyt C, Liu Q, Hsiao Y-C, Pierce EA, Page-McCaw PS, Ferland RJ. Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1. J. Neurosci., 30(26):8759-8768, 2010.

帕帕安德里亚D, Kukol WS, Anderson TM, Herron BJ, Ferland RJ. 氟基诱导近交系小鼠肌阵挛的分析. Epil. Res., 87:130-136, 2009.

Hsiao Y-C, Tong ZJ, Westfall (Doering) JE, Ault JG, Page-McCaw PS, Ferland RJ. Ahi1, 在朱伯特综合症中谁的人类同源基因发生了突变, Rab8a, ciliogenesis, 以及水疱性运输. Hum. Mol. Genet., 18(20):3926-3941, 2009.

Ferland RJ, Batiz LF, Neal J, Lian G, Bundock E, Lu J, Hsiao Y-C, Diamond R, Mei D, Banham A, Brown PJ, Vanderburg CR, Joseph J, Hecht JL, Folkerth R, Guerrini R, Walsh CA, Rodriguez EM, Sheen VL. Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. Hum. Mol. Genet., 18(3):497-516, 2009.

潘伟杰,陈志强,陈志强. Genetic dissociation of seizure traits in inbred strains of mice using the flurothyl model of epileptogenesis. Exp. Neurol., 215:60-68, 2009.

Morrow EM, Yoo S-Y, Flavell SW, Kim T-K, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, Al-Saad S, Ware J, Joseph RM, Greenblatt R, Gleason D, Ertelt JA, Apse KA, Bodell A, Partlow JN, Barry B, Yao H, Markianos K, Ferland RJ, Greenberg ME, Walsh CA. 通过追踪最近共同的祖先来确定自闭症位点和基因. 科学通报,2008,21 (1):18- 23.

Doering JE, Kane K, Hsiao Y-C, Yao C, Shi B, Slowik A, Dhagat B, Scott D, Ault JG, Page-McCaw PS, Ferland RJ. AHI1表达的物种差异, 一种与神经发育障碍朱伯特综合症有关的蛋白质, 优先积累到柱头状体. J. Comp. Neurol., 511:238-256, 2008.

Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, and Walsh CA. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert Syndrome. Nature Genet., 36:1008-1013, 2004.

Other scholarly activity

Book Chapters:

Löscher W,费兰RJ,费拉罗TN. 应变对癫痫发作和癫痫表达的影响. In: Models of Seizure and Epilepsy, 2nd edition, Cambridge: Academic Press (2017) pp. 21-38.  ISBN 9780128040669

华凯,布尔乔亚JR,弗兰RJ. Joubert syndrome. In: Reference Module in Neuroscience and Biobehavioral Psychology, Elsevier (2017) pp. 1-8.   ISBN 9780128093245

Ferland RJ, Walsh CA. The genetics of Joubert syndrome: Insights into the development of the posterior midline of the brain.  In: Squire, LR (Ed.神经科学百科全书.  圣地亚哥:学术出版社(2009)页. 249-256.

Applegate CD, Burchfiel JL, Ferland RJ, Nierenberg J.   鼻脑网络在点燃后期的作用.  在:科科伦,M和摩西,S(编辑.) Kindling 5.  纽约:乌鸦出版社(1998)页. 151-165.

Invited Editorials:

Ferland RJ and Guerrini R.  结节异托位是建立在层上的. 中华神经病学杂志,29 (4):743 -743,2009.

Ferland R and Hua K. Referee Report For: Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles [version 1; referees: 2 approved] F1000Research 2015, 4:590 (doi: 10.5256/f1000research.7495.r10185)

Hua K and Ferland RJ. Primary cilia: the story of the hair-like organelle that signals just became more complicated. Atlas of science, 2019. http://atlasofscience.org/primary-cilia-the-story-of-the-hair-like-organelle-that-signals-just-became-more-complicated/

Research topics

Biosignaling
Brain
COM Faculty Research
Development
Developmental Biology
Gene Expression
Neural Stem Cell
Neuroscience